CHAPERONE PROBLEMS: One of the NCL patients Milen Velinov and colleagues studied had characteristic storage inclusions in peripheral lymphocytes (a). Another showed similar inclusions in cells throughout the central nervous system (b).DOI:10.1371/JOURNAL.PONE.0029729.G002Kufs disease type B, also called autosomal dominant adult neuronal ceroid lipofuscinosis (ANCL), is a particularly nefarious malady, even as neurodegenerative conditions go. Beginning in young adulthood, people with the disease develop dementia, difficulty with movement, and changes in personality. After a decade or so of cognitive decline, Kufs patients succumb, rarely making it to their 45th birthday.
Other forms of NCL even strike children, affecting about one in 12,500 globally. But the adult form of the disease is exceptionally rare, with fewer than 200 cases reported worldwide, says Milen Velinov, who treats patients with NCL at Albert Einstein College of Medicine and directs the Genetic Services program at the New York State Institute for Basic Research in Developmental Disabilities, both in New York City.
From genetic studies in recent years it had become clear that NCL is actually a cluster of diseases with different genetic roots, but “we did not have any idea what the gene of this condition [ANCL] is,” says Velinov. A few years ago, he and his colleagues set out to find the genetic culprits. Not knowing where to ...
